Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma.
Multiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-κB activation. However, genetic alterations causing constitutive NF-κB activation are still incompletely under...
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Format: | Article |
Language: | English |
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Public Library of Science (PLoS)
2015-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4391781?pdf=render |
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author | Katharina Troppan Sybille Hofer Kerstin Wenzl Markus Lassnig Beata Pursche Elisabeth Steinbauer Marco Wiltgen Barbara Zulus Wilfried Renner Christine Beham-Schmid Alexander Deutsch Peter Neumeister |
author_facet | Katharina Troppan Sybille Hofer Kerstin Wenzl Markus Lassnig Beata Pursche Elisabeth Steinbauer Marco Wiltgen Barbara Zulus Wilfried Renner Christine Beham-Schmid Alexander Deutsch Peter Neumeister |
author_sort | Katharina Troppan |
collection | DOAJ |
description | Multiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-κB activation. However, genetic alterations causing constitutive NF-κB activation are still incompletely understood. Since A20 (TNFAIP3) is a suppressor of the NF-κB pathway and is frequently inactivated in various lymphoid malignancies, we investigated the genetic and epigenetic properties of A20 in MM. In total, of 46 patient specimens analyzed, 3 single base pair exchanges, 2 synonymous mutations and one missense mutation were detected by direct sequencing. Gene copy number analysis revealed a reduced A20 gene copy number in 8 of 45 (17.7%) patients. Furthermore, immunohistochemical staining confirmed that A20 expression correlates with the reduction of A20 gene copy number. These data suggest that A20 contributes to tumor formation in a significant fraction of myeloma patients. |
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id | doaj.art-c60f5f83edf74ba0886428aab54e4b25 |
institution | Directory Open Access Journal |
issn | 1932-6203 |
language | English |
last_indexed | 2024-12-11T01:42:43Z |
publishDate | 2015-01-01 |
publisher | Public Library of Science (PLoS) |
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series | PLoS ONE |
spelling | doaj.art-c60f5f83edf74ba0886428aab54e4b252022-12-22T01:25:00ZengPublic Library of Science (PLoS)PLoS ONE1932-62032015-01-01104e012392210.1371/journal.pone.0123922Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma.Katharina TroppanSybille HoferKerstin WenzlMarkus LassnigBeata PurscheElisabeth SteinbauerMarco WiltgenBarbara ZulusWilfried RennerChristine Beham-SchmidAlexander DeutschPeter NeumeisterMultiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-κB activation. However, genetic alterations causing constitutive NF-κB activation are still incompletely understood. Since A20 (TNFAIP3) is a suppressor of the NF-κB pathway and is frequently inactivated in various lymphoid malignancies, we investigated the genetic and epigenetic properties of A20 in MM. In total, of 46 patient specimens analyzed, 3 single base pair exchanges, 2 synonymous mutations and one missense mutation were detected by direct sequencing. Gene copy number analysis revealed a reduced A20 gene copy number in 8 of 45 (17.7%) patients. Furthermore, immunohistochemical staining confirmed that A20 expression correlates with the reduction of A20 gene copy number. These data suggest that A20 contributes to tumor formation in a significant fraction of myeloma patients.http://europepmc.org/articles/PMC4391781?pdf=render |
spellingShingle | Katharina Troppan Sybille Hofer Kerstin Wenzl Markus Lassnig Beata Pursche Elisabeth Steinbauer Marco Wiltgen Barbara Zulus Wilfried Renner Christine Beham-Schmid Alexander Deutsch Peter Neumeister Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma. PLoS ONE |
title | Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma. |
title_full | Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma. |
title_fullStr | Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma. |
title_full_unstemmed | Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma. |
title_short | Frequent down regulation of the tumor suppressor gene a20 in multiple myeloma. |
title_sort | frequent down regulation of the tumor suppressor gene a20 in multiple myeloma |
url | http://europepmc.org/articles/PMC4391781?pdf=render |
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